ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.968G>A (p.Gly323Asp)

dbSNP: rs761766384
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001317804 SCV001508480 uncertain significance Neuronal ceroid lipofuscinosis 2021-10-09 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with CTSD-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces glycine with aspartic acid at codon 323 of the CTSD protein (p.Gly323Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid.

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